Comprehenisve Model for Colorectal Cancer Risk

Incidence of and survival after subsequent cancers in carriers of pathogenic MMR variants with previous cancer: A report from the prospective Lynch syndrome database

P Møller, T Seppälä, I Bernstein, E Holinski-Feder, P Sala, DG Evans, A Lindblom, F MacRae, I Blanco, R Sijmons, J Jeffries, H Vasen, J Burn, S Nakken, E Hovig, EA Rødland, K Tharmaratnam, WH De Vos Tot Nederveen Cappel, J Hill, J Wijnen

2017-09-01

Objective Today most patients with Lynch syndrome (LS) survive their first cancer. There is limited information on the incidences ..

Lack of evidence for germline RNF43 mutations in patients with serrated polyposis syndrome from a large multinational study

DD Buchanan, M Clendenning, L Zhuoer, JR Stewart, S Joseland, S Woodall, J Arnold, K Semotiuk, M Aronson, S Holter, S Gallinger, MA Jenkins, K Sweet, FA Macrae, IM Winship, S Parry, C Rosty

2017-06-01

Lifetime alcohol intake is associated with an increased risk of KRAS and BRAF-/KRAS- but not BRAF colorectal cancer

H Jayasekara, RJ MacInnis, EJ Williamson, AM Hodge, M Clendenning, C Rosty, R Walters, R Room, MC Southey, MA Jenkins, RL Milne, JL Hopper, GG Giles, DD Buchanan, DR English

2017-04-01

Ethanol in alcoholic beverages is a causative agent for colorectal cancer. Colorectal cancer is a biologically heterogeneous disea..

Alcohol consumption and the risk of colorectal cancer for mismatch repair gene mutation carriers

S Ghazaleh Dashti, DD Buchanan, H Jayasekara, DA Ouakrim, M Clendenning, C Rosty, IM Winship, FA MacRae, GG Giles, S Parry, G Casey, RW Haile, S Gallinger, L Le Marchand, SN Thibodeau, NM Lindor, PA Newcomb, JD Potter, JA Baron, JL Hopper

2017-03-01

Background: People with germline mutation in one of the DNA mismatch repair (MMR) genes have increased colorectal cancer risk. For..

Germline miRNA DNA variants and the risk of colorectal cancer by subtype

NM Lindor, MC Larson, MS DeRycke, SK McDonnell, S Baheti, ZC Fogarty, AK Win, JD Potter, DD Buchanan, M Clendenning, PA Newcomb, G Casey, S Gallinger, L Le Marchand, JL Hopper, MA Jenkins, EL Goode, SN Thibodeau

2017-03-01

MicroRNAs (miRNAs) regulate up to one-third of all protein-coding genes including genes relevant to cancer. Variants within miRNAs..

Modeling of successive cancer risks in Lynch syndrome families in the presence of competing risks using copulas

YH Choi, L Briollais, AK Win, J Hopper, D Buchanan, M Jenkins, L Lakhal-Chaieb

2017-03-01

In this article, we propose an association model to estimate the penetrance (risk) of successive cancers in the presence of compet..

Integrating personalised genomics into risk stratification models of population screening for colorectal cancer

D Cenin, P O'Leary, I Lansdorp-Vogelaar, D Preen, M Jenkins, E Moses

2017-02-01

The CRISP colorectal cancer risk prediction tool: an exploratory study using simulated consultations in Australian primary care

JG Walker, A Bickerstaffe, N Hewabandu, S Maddumarachchi, JG Dowty, M Jenkins, M Pirotta, FM Walter, JD Emery

2017-01-19

Background: In Australia, screening for colorectal cancer (CRC) with colonoscopy is meant to be reserved for people at increased r..

How does genetic risk information for Lynch syndrome translate to risk management behaviours

E Steel, A Robbins, M Jenkins, L Flander, C Gaff, L Keogh

2017-01-05

Background: There is limited research on why some individuals who have undergone predictive genetic testing for Lynch syndrome do ..

SNP rs16906252C>T is an expression and methylation quantitative trait locus associated with an increased risk of developing MGMT-methylated colorectal cancer

J Kuroiwa-Trzmielina, F Wang, RW Rapkins, RL Ward, DD Buchanan, AK Win, M Clendenning, C Rosty, MC Southey, IM Winship, JL Hopper, MA Jenkins, J Olivier, NJ Hawkins, MP Hitchins

2016-12-15

Purpose: Methylation of the MGMT promoter is the major cause of O⁶-methylguanine methyltransferase deficiency in cancer..

Colorectal cancer screening is cost-effective in the elderly who have had less intense prior screening, high baseline risk of colorectal cancer and less comorbidities

M Jenkins

2016-10-01

Common variants in the obesity-associated genes FTO and MC4R are not associated with risk of colorectal cancer

B Yang, AP Thrift, JC Figueiredo, MA Jenkins, FR Schumacher, DV Conti, Y Lin, AK Win, PJ Limburg, SI Berndt, H Brenner, AT Chan, J Chang-Claude, M Hoffmeister, TJ Hudson, LL Marchand, PA Newcomb, ML Slattery, E White, U Peters

2016-10-01

Background Obesity is a convincing risk factor for colorectal cancer. Genetic variants in or near FTO and MC4R are consistently as..

Genome-Wide Interaction Analyses between Genetic Variants and Alcohol Consumption and Smoking for Risk of Colorectal Cancer

J Gong, CM Hutter, PA Newcomb, CM Ulrich, SA Bien, PT Campbell, JA Baron, SI Berndt, S Bezieau, H Brenner, G Casey, AT Chan, J Chang-Claude, M Du, D Duggan, JC Figueiredo, S Gallinger, EL Giovannucci, RW Haile, TA Harrison

2016-10-01

Genome-wide association studies (GWAS) have identified many genetic susceptibility loci for colorectal cancer (CRC). However, vari..

Risk of extracolonic cancers for people with biallelic and monoallelic mutations in MUTYH

Aung Ko Win, Jeanette C Reece, James G Dowty, Daniel D Buchanan, Mark Clendenning, Christophe Rosty, Melissa C Southey, Joanne P Young, Sean P Cleary, Hyeja Kim, Michelle Cotterchio, Finlay A Macrae, Katherine M Tucker, John A Baron, Terrilea Burnett, Loic Le Marchand, Graham Casey, Robert W Haile, Polly A Newcomb, Stephen N Thibodeau

2016-10-01

Risk of extracolonic cancers for people with biallelic and monoallelic mutations in MUTYH

AK Win, JC Reece, JG Dowty, DD Buchanan, M Clendenning, C Rosty, MC Southey, JP Young, SP Cleary, H Kim, M Cotterchio, FA Macrae, KM Tucker, JA Baron, T Burnett, L Le Marchand, G Casey, RW Haile, PA Newcomb, SN Thibodeau

2016-10-01

Germline mutations in the DNA base excision repair gene MUTYH are known to increase a carrier's risk of colorectal cancer. However..

Association between Adult Height and Risk of Colorectal, Lung, and Prostate Cancer: Results from Meta-analyses of Prospective Studies and Mendelian Randomization Analyses

NK Khankari, XO Shu, W Wen, P Kraft, S Lindström, U Peters, J Schildkraut, FR Schumacher, P Bofetta, A Risch, H Bickeböller, CI Amos, DF Easton, RA Eeles, SB Gruber, CA Haiman, DJ Hunter, SJ Chanock, BL Pierce, W Zheng

2016-09-01

Background: Observational studies examining associations between adult height and risk of colorectal, prostate, and lung cancers h..

Associations of 5HTTLPR polymorphism with major depressive disorder and alcohol dependence: A systematic review and meta-analysis

KZ Oo, YK Aung, MA Jenkins, AK Win

2016-09-01

Objective: The neurotransmitter serotonin is understood to control mood and drug response. Carrying a genetic variant in the serot..

Cross-cancer genome-wide analysis of lung, ovary, breast, prostate, and colorectal cancer reveals novel pleiotropic associations

G Fehringer, P Kraft, PD Pharoah, RA Eeles, N Chatterjee, FR Schumacher, JM Schildkraut, S Lindström, P Brennan, H Bickeböller, RS Houlston, MT Landi, N Caporaso, A Risch, AA Al Olama, SI Berndt, EL Giovannucci, H Grönberg, Z Kote-Jarai, J Ma

2016-09-01

Identifying genetic variants with pleiotropic associations can uncover common pathways influencing multiple cancers. We took a two..

Risk factors for metachronous colorectal cancer following a primary colorectal cancer: A prospective cohort study

Harindra Jayasekara, Jeanette C Reece, Daniel D Buchanan, Christophe Rosty, S Ghazaleh Dashti, Driss Ait Ouakrim, Ingrid M Winship, Finlay A Macrae, Alex Boussioutas, Graham G Giles, Dennis J Ahnen, Jan Lowery, Graham Casey, Robert W Haile, Steven Gallinger, Loic Le Marchand, Polly A Newcomb, Noralane M Lindor, John L Hopper, Susan Parry

2016-09-01

Cholecystectomy and the risk of colorectal cancer by tumor mismatch repair deficiency status

J Shang, JC Reece, DD Buchanan, GG Giles, JC Figueiredo, G Casey, S Gallinger, SN Thibodeau, NM Lindor, PA Newcomb, JD Potter, JA Baron, JL Hopper, MA Jenkins, AK Win

2016-08-01

Purpose: Gallbladder diseases and cholecystectomy may play a role in the development of colorectal cancer (CRC). Our aim was to in..

Genetically Predicted Body Mass Index and Breast Cancer Risk: Mendelian Randomization Analyses of Data from 145,000 Women of European Descent

Y Guo, S Warren Andersen, XO Shu, K Michailidou, MK Bolla, Q Wang, M Garcia-Closas, RL Milne, MK Schmidt, J Chang-Claude, A Dunning, SE Bojesen, H Ahsan, K Aittomäki, IL Andrulis, H Anton-Culver, V Arndt, MW Beckmann, A Beeghly-Fadiel, J Benitez

2016-08-01

Background: Observational epidemiological studies have shown that high body mass index (BMI) is associated with a reduced risk of ..

Mendelian randomisation analysis strongly implicates adiposity with risk of developing colorectal cancer

D Jarvis, JS Mitchell, PJ Law, K Palin, S Tuupanen, A Gylfe, UA Hänninen, T Cajuso, T Tanskanen, J Kondelin, E Kaasinen, AP Sarin, J Kaprio, JG Eriksson, H Rissanen, P Knekt, E Pukkala, P Jousilahti, V Salomaa, S Ripatti

2016-07-12

Background: Observational studies have associated adiposity with an increased risk of colorectal cancer (CRC). However, such studi..

Fine-mapping of common genetic variants associated with colorectal tumor risk identified potential functional variants

M Du, S Jiao, SA Bien, M Gala, G Abecasis, S Bezieau, H Brenner, K Butterbach, BJ Caan, CS Carlson, G Casey, J Chang-Claude, DV Conti, KR Curtis, D Duggan, S Gallinger, RW Haile, TA Harrison, RB Hayes, M Hoffmeister

2016-07-01

Genome-wide association studies (GWAS) have identified many common single nucleotide polymorphisms (SNPs) associated with colorect..

Identification of Susceptibility Loci and Genes for Colorectal Cancer Risk

C Zeng, K Matsuda, WH Jia, J Chang, SS Kweon, YB Xiang, A Shin, SH Jee, DH Kim, B Zhang, Q Cai, X Guo, J Long, N Wang, R Courtney, ZZ Pan, C Wu, A Takahashi, MH Shin, K Matsuo

2016-06-01

Background & Aims Known genetic factors explain only a small fraction of genetic variation in colorectal cancer (CRC). We conducte..

Multivitamin, calcium and folic acid supplements and the risk of colorectal cancer in Lynch syndrome

R Chau, SG Dashti, DA Ouakrim, DD Buchanan, M Clendenning, C Rosty, I MWinship, JP Young, GG Giles, FA Macrae, A Boussioutas, S Parry, JC Figueiredo, AJ Levine, DJ Ahnen, G Casey, RW Haile, S Gallinger, LL Marchand, SN Thibodeau

2016-06-01

Background: People with a DNA mismatch repair (MMR) gene mutation have a substantially elevated risk of colorectal cancer (CRC) bu..

Screening practices of Australians at population and familial risk following the partial roll-out of the National Bowel Cancer Screening Program, 2009-2012

L Flander, M Jenkins, K Win Aung, A Boussioutas, J Hopper, G Giles, I Winship, F Macrae, D Ait Ouakrim

2016-06-01

Variation at 2q35 (PNKD and TMBIM1) influences colorectal cancer risk and identifies a pleiotropic effect with inflammatory bowel disease

G Orlando, PJ Law, K Palin, S Tuupanen, A Gylfe, UA Hänninen, T Cajuso, T Tanskanen, J Kondelin, E Kaasinen, AP Sarin, J Kaprio, JG Eriksson, H Rissanen, P Knekt, E Pukkala, P Jousilahti, V Salomaa, S Ripatti, A Palotie

2016-06-01

To identify new risk loci for colorectal cancer (CRC), we conducted a meta-analysis of seven genome-wide association studies (GWAS..

Determining the familial risk distribution of colorectal cancer: a data mining approach

R Chau, MA Jenkins, DD Buchanan, D Ait Ouakrim, GG Giles, G Casey, S Gallinger, RW Haile, L Le Marchand, PA Newcomb, NM Lindor, JL Hopper, AK Win

2016-04-01

This study was aimed to characterize the distribution of colorectal cancer risk using family history of cancers by data mining. Fa..

GWASeq: Targeted re-sequencing follow up to GWAS

MP Salomon, WLS Li, CK Edlund, J Morrison, BK Fortini, AK Win, DV Conti, DC Thomas, D Duggan, DD Buchanan, MA Jenkins, JL Hopper, S Gallinger, L Le Marchand, PA Newcomb, G Casey, P Marjoram

2016-03-03

Background: For the last decade the conceptual framework of the Genome-Wide Association Study (GWAS) has dominated the investigati..

Comparison of Prediction Models for Lynch Syndrome among Individuals with Colorectal Cancer

F Kastrinos, RP Ojha, C Leenen, C Alvero, RC Mercado, J Balmaña, I Valenzuela, F Balaguer, R Green, NM Lindor, SN Thibodeau, P Newcomb, AK Win, M Jenkins, DD Buchanan, L Bertario, P Sala, H Hampel, S Syngal, EW Steyerberg

2016-02-01

Background: Recent guidelines recommend the Lynch Syndrome prediction models MMRPredict, MMRPro, and PREMM<inf>1,2,6</inf> for the..

Quantifying the utility of single nucleotide polymorphisms to guide colorectal cancer screening

MA Jenkins, E Makalic, JG Dowty, DF Schmidt, GS Dite, RJ MacInnis, D Ait Ouakrim, M Clendenning, LB Flander, OK Stanesby, JL Hopper, AK Win, DD Buchanan

2016-02-01

Aim: To determine whether single nucleotide polymorphisms (SNPs) can be used to identify people who should be screened for colorec..

CYP24A1 variant modifies the association between use of oestrogen plus progestogen therapy and colorectal cancer risk

X Garcia-Albeniz, A Rudolph, C Hutter, E White, Y Lin, SA Rosse, JC Figueiredo, TA Harrison, S Jiao, H Brenner, G Casey, TJ Hudson, M Thornquist, L Le Marchand, J Potter, ML Slattery, B Zanke, JA Baron, BJ Caan, SJ Chanock

2016-01-19

Background:Menopausal hormone therapy (MHT) use has been consistently associated with a decreased risk of colorectal cancer (CRC) ..

Germline mutations in PMS2 and MLH1 in individuals with solitary loss of PMS2 expression in colorectal carcinomas from the colon cancer family registry cohort

C Rosty, M Clendenning, MD Walsh, SV Eriksen, MC Southey, IM Winship, FA Macrae, A Boussioutas, NK Poplawski, S Parry, J Arnold, JP Young, G Casey, RW Haile, S Gallinger, L Le Marchand, PA Newcomb, JD Potter, M Derycke, NM Lindor

2016-01-01

Objectives: Immunohistochemistry for DNA mismatch repair proteins is used to screen for Lynch syndrome in individuals with colorec..

PMS2 monoallelic mutation carriers: The known unknown

ML Goodenberger, BC Thomas, D Riegert-Johnson, CR Boland, SE Plon, M Clendenning, AK Win, L Senter, SM Lipkin, ZK Stadler, FA Macrae, HT Lynch, JN Weitzel, A De La Chapelle, S Syngal, P Lynch, S Parry, MA Jenkins, S Gallinger, S Holter

2016-01-01

Germ-line mutations in MLH1, MSH2, MSH6, and PMS2 have been shown to cause Lynch syndrome. The penetrance of the cancer and tumor ..

Lynch syndrome and cervical cancer

YC Antill, JG Dowty, AK Win, T Thompson, MD Walsh, MC Cummings, S Gallinger, NM Lindor, L Le Marchand, JL Hopper, PA Newcomb, RW Haile, J Church, KM Tucker, DD Buchanan, JP Young, IM Winship, MA Jenkins

2015-12-01

Carriers of germline mutations in DNA mismatch repair (MMR) genes are at increased risk of several cancers including colorectal an..

Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1

THT Cheng, D Thompson, J Painter, T Omara, M Gorman, L Martin, C Palles, A Jones, DD Buchanan, A Ko Win, J Hopper, M Jenkins, NM Lindor, PA Newcomb, S Gallinger, D Conti, F Schumacher, G Casey, GG Giles, P Pharoah

2015-12-01

High-risk mutations in several genes predispose to both colorectal cancer (CRC) and endometrial cancer (EC). We therefore hypothes..

Genetic variants within the hTERT gene and the risk of colorectal cancer in Lynch syndrome.

Aung Ko Win, Mark Clendenning, William Crawford, Christophe Rosty, Susan G Preston, Melissa C Southey, Susan Parry, Graham G Giles, Finlay A Macrae, Ingrid M Winship, John A Baron, John L Hopper, Mark A Jenkins, Daniel D Buchanan

2015-11-01

Lynch syndrome is an inherited cancer-predisposing disorder caused by germline mutations in the DNA mismatch repair (MMR) genes bu..

Mutation Spectrum and Risk of Colorectal Cancer in African American Families with Lynch Syndrome

RSC Guindalini, AK Win, C Gulden, NM Lindor, PA Newcomb, RW Haile, V Raymond, E Stoffel, M Hall, X Llor, CI Ukaegbu, I Solomon, J Weitzel, M Kalady, A Blanco, J Terdiman, GA Shuttlesworth, PM Lynch, H Hampel, HT Lynch

2015-11-01

Background and Aims African Americans (AAs) have the highest incidence of and mortality resulting from colorectal cancer (CRC) in ..

A genome-wide association study for colorectal cancer identifies a risk locus in 14q23.1

M Lemire, C Qu, LWM Loo, SHE Zaidi, H Wang, SI Berndt, S Bézieau, H Brenner, PT Campbell, AT Chan, J Chang-Claude, M Du, CK Edlund, S Gallinger, RW Haile, TA Harrison, M Hoffmeister, JL Hopper, L Hou, L Hsu

2015-09-24

Over 50 loci associated with colorectal cancer (CRC) have been uncovered by genome-wide association studies (GWAS). Identifying ad..

Fertility after young-onset colorectal cancer: A study of subjects with Lynch syndrome

D Stupart, AK Win, IM Winship, M Jenkins

2015-09-01

Aim: Infertility is a concern for young survivors of colorectal cancer (CRC), but this risk is not well quantified. Carriers of mi..

Erratum: A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer(Scientific Reports (2015) 5: (10442) 10.1038/srep10442)

NA Al-Tassan, N Whiffin, FJ Hosking, C Palles, SM Farrington, SE Dobbins, R Harris, M Gorman, A Tenesa, BF Meyer, SM Wakil, B Kinnersley, H Campbell, L Martin, CG Smith, S Idziaszczyk, E Barclay, TS Maughan, R Kaplan, R Kerr

2015-08-03

Genome-wide association studies (GWAS) of colorectal cancer (CRC) have identified 23 susceptibility loci thus far. Analyses of pre..

Association between body mass index and mortality for colorectal cancer survivors: Overall and by tumor molecular phenotype

PT Campbell, CC Newton, PA Newcomb, AI Phipps, DJ Ahnen, JA Baron, DD Buchanan, G Casey, SP Cleary, M Cotterchio, AB Farris, JC Figueiredo, S Gallinger, RC Green, RW Haile, JL Hopper, MA Jenkins, L Le Marchand, KW Makar, JR McLaughlin

2015-08-01

Background: Microsatellite instability (MSI) and BRAF mutation status are associated with colorectal cancer survival, whereas the ..

Risk of colorectal cancer for people with a mutation in both a MUTYH and a DNA mismatch repair gene

AK Win, JC Reece, DD Buchanan, M Clendenning, JP Young, SP Cleary, H Kim, M Cotterchio, JG Dowty, RJ MacInnis, KM Tucker, IM Winship, FA Macrae, T Burnett, L Le Marchand, G Casey, RW Haile, PA Newcomb, SN Thibodeau, NM Lindor

2015-07-23

The base excision repair protein, MUTYH, functionally interacts with the DNA mismatch repair (MMR) system. As genetic testing move..

Genome-wide association study of colorectal cancer identifies six new susceptibility loci

FR Schumacher, SL Schmit, S Jiao, CK Edlund, H Wang, B Zhang, L Hsu, SC Huang, CP Fischer, JF Harju, GE Idos, F Lejbkowicz, FJ Manion, K McDonnell, CE McNeil, M Melas, HS Rennert, W Shi, DC Thomas, DJ Van Den Berg

2015-07-07

Genetic susceptibility to colorectal cancer is caused by rare pathogenic mutations and common genetic variants that contribute to ..

Consequences of germline variation disrupting the constitutional translational initiation codon start sites of MLH1 and BRCA2: Use of potential alternative start sites and implications for predicting variant pathogenicity

MT Parsons, PJ Whiley, J Beesley, M Drost, N de Wind, BA Thompson, L Marquart, JL Hopper, MA Jenkins, MA Brown, K Tucker, L Warwick, DD Buchanan, AB Spurdle

2015-07-01

Variants that disrupt the translation initiation sequences in cancer predisposition genes are generally assumed to be deleterious...

Mendelian randomization study of body mass index and colorectal cancer risk

AP Thrift, J Gong, U Peters, J Chang-Claude, A Rudolph, ML Slattery, AT Chan, AE Locke, B Kahali, AE Justice, TH Pers, S Gallinger, RB Hayes, JA Baron, B J.caan, S Ogino, SI Berndt, SJ Chanock, G Casey, RW Haile

2015-07-01

Background: High body mass index (BMI) is consistently linked to increased risk of colorectal cancer for men, whereas the associat..

Prediagnostic physical activity and colorectal cancer survival: Overall and stratified by tumor characteristics

S Hardikar, PA Newcomb, PT Campbell, AK Win, NM Lindor, DD Buchanan, KW Makar, MA Jenkins, JD Potter, AI Phipps

2015-07-01

Background: Physical activity is associated with a lower incidence of colorectal cancer; however, the relationship of physical act..

Mendelian randomization study of height and risk of colorectal cancer

AP Thrift, J Gong, U Peters, J Chang-Claude, A Rudolph, ML Slattery, AT Chan, T Esko, AR Wood, J Yang, S Vedantam, S Gustafsson, TH Pers, JA Baron, S Bezieau, S Küry, S Ogino, SI Berndt, G Casey, RW Haile

2015-05-27

Background: For men and women, taller height is associated with increased risk of all cancers combined. For colorectal cancer (CRC..

Childhood cancers in families with and without Lynch syndrome

JA Heath, JC Reece, DD Buchanan, G Casey, CA Durno, S Gallinger, RW Haile, PA Newcomb, JD Potter, SN Thibodeau, L Le Marchand, NM Lindor, JL Hopper, MA Jenkins, AK Win

2015-05-12

Inheritance of a germline mutation in one of the DNA mismatch repair (MMR) genes or the EPCAM gene is associated with an increased..

Germline TP53 mutations in patients with early-onset colorectal cancer in the Colon Cancer Family Registry

MB Yurgelun, S Masciari, VA Joshi, RC Mercado, NM Lindor, S Gallinger, JL Hopper, MA Jenkins, DD Buchanan, PA Newcomb, JD Potter, RW Haile, R Kucherlapati, S Syngal

2015-05-01

IMPORTANCE: Li-Fraumeni syndrome, usually characterized by germline TP53 mutations, is associated with markedly elevated lifetime ..

Identification of a common variant with potential pleiotropic effect on risk of inflammatory bowel disease and colorectal cancer

H Khalili, J Gong, H Brenner, TR Austin, CM Hutter, Y Baba, JA Baron, SI Berndt, S Bézieau, B Caan, PT Campbell, J Chang-Claude, SJ Chanock, C Chen, L Hsu, S Jiao, DV Conti, D Duggan, CS Fuchs, M Gala

2015-03-24

Although genome-wide association studies (GWAS) have separately identified many genetic susceptibility loci for ulcerative colitis..

Association of aspirin and NSAID use with risk of colorectal cancer according to genetic variants

H Nan, CM Hutter, Y Lin, EJ Jacobs, CM Ulrich, E White, JA Baron, SI Berndt, H Brenner, K Butterbach, BJ Caan, PT Campbell, CS Carlson, G Casey, J Chang-Claude, SJ Chanock, M Cotterchio, D Duggan, JC Figueiredo, CS Fuchs

2015-03-17

IMPORTANCE Use of aspirin and other nonsteroidal anti-inflammatory drugs (NSAIDs) is associated with lower risk of colorectal canc..

Common colorectal cancer risk alleles contribute to the multiple colorectal adenoma phenotype, but do not influence colonic polyposis in FAP

THT Cheng, M Gorman, L Martin, E Barclay, G Casey, PA Newcomb, DV Conti, FR Schumacher, S Gallinger, NM Lindor, J Hopper, M Jenkins, DJ Hunter, P Kraft, KB Jacobs, DG Cox, M Yeager, SE Hankinson, S Wacholder, Z Wang

2015-02-20

The presence of multiple (5-100) colorectal adenomas suggests an inherited predisposition, but the genetic aetiology of this pheno..

Short-term risk of colorectal cancer in individuals with lynch syndrome: A meta-analysis

MA Jenkins, JG Dowty, DA Ouakrim, JD Mathews, JL Hopper, Y Drouet, C Lasset, V Bonadona, AK Win

2015-02-01

Purpose For carriers of germline mutations in DNA mismatch repair genes, the most relevant statistic for cancer prevention is colo..

Red meat intake, NAT2, and risk of colorectal cancer: A pooled analysis of 11 studies

AN Ananthakrishnan, M Du, SI Berndt, H Brenner, BJ Caan, G Casey, J Chang-Claude, D Duggan, CS Fuchs, S Gallinger, EL Giovannucci, TA Harrison, RB Hayes, M Hoffmeister, JL Hopper, L Hou, L Hsu, MA Jenkins, P Kraft, J Ma

2015-01-01

Background: Red meat intake has been associated with risk of colorectal cancer, potentially mediated through heterocyclic amines. ..

Role of tumour molecular and pathology features to estimate colorectal cancer risk for first-degree relatives

AK Win, DD Buchanan, C Rosty, RJ MacInnis, JG Dowty, GS Dite, GG Giles, MC Southey, JP Young, M Clendenning, MD Walsh, RJ Walters, A Boussioutas, TC Smyrk, SN Thibodeau, JA Baron, JD Potter, PA Newcomb, L Le Marchand, RW Haile

2015-01-01

Objective: To estimate risk of colorectal cancer (CRC) for first-degree relatives of CRC cases based on CRC molecular subtypes and..

EFFECT OF LIFESTYLE FACTORS ON RISK OF EARLY-ONSET COLORECTAL CANCER

Aung Ko Win, Sergio A Taunde, Harindra Jayasekara, Daniel D Buchanan, Joanne P Young, John D Potter, John A Baron, Loic Le Marchand, Graham Casey, Robert W Haile, Noralane M Lindor, Polly A Newcomb, Michelle Cotterchio, Steven Gallinger, John L Hopper, Mark A Jenkins

2014-12-01

GENETIC TEST DECLINING AND HIGH CANCER RISK PERCEPTION IN DNA MISMATCH REPAIR GENE MUTATION FAMILIES

Louisa Flander, Antony Ugoni, Louise Keogh, Driss Ait Ouakrim, Aung K Win, Clara Gaff, Ingrid Winship, Mark Jenkins

2014-12-01

High prevalence of mismatch repair deficiency in prostate cancers diagnosed in mismatch repair gene mutation carriers from the colon cancer family registry

C Rosty, MD Walsh, NM Lindor, SN Thibodeau, E Mundt, S Gallinger, M Aronson, A Pollett, JA Baron, S Pearson, M Clendenning, RJ Walters, BN Nagler, WJ Crawford, JP Young, I Winship, AK Win, JL Hopper, MA Jenkins, DD Buchanan

2014-12-01

The question of whether prostate cancer is part of the Lynch syndrome spectrum of tumors is unresolved. We investigated the mismat..

No evidence of gene-calcium interactions from genome-wide analysis of colorectal cancer risk

M Du, X Zhang, M Hoffmeister, RE Schoen, JA Baron, SI Berndt, H Brenner, CS Carlson, G Casey, AT Chan, KR Curtis, D Duggan, WJ Gauderman, EL Giovannucci, J Gong, TA Harrison, RB Hayes, BE Henderson, JL Hopper, L Hsu

2014-12-01

Background: Calcium intake may reduce risk of colorectal cancer, but the mechanisms remain unclear. Studies of interaction between..

Prevalence and predictors of germline CDKN2A mutations for melanoma cases from Australia, Spain and the United Kingdom

M Harland, AE Cust, C Badenas, YM Chang, EA Holland, P Aguilera, JF Aitken, BK Armstrong, JH Barrett, C Carrera, M Chan, J Gascoyne, GG Giles, C Agha-Hamilton, JL Hopper, MA Jenkins, PA Kanetsky, RF Kefford, I Kolm, J Lowery

2014-11-20

Background: Mutations in the CDKN2A and CDK4 genes predispose to melanoma. From three case-control studies of cutaneous melanoma, ..

A novel colorectal cancer risk locus at 4q32.2 identified from an international genomewide association study

SL Schmit, FR Schumacher, CK Edlund, DV Conti, L Raskin, F Lejbkowicz, M Pinchev, HS Rennert, MA Jenkins, JL Hopper, DD Buchanan, NM Lindor, L Le Marchand, S Gallinger, RW Haile, PA Newcomb, SC Huang, G Rennert, G Casey, SB Gruber

2014-11-01

Only a fraction of colorectal cancer heritability is explained by known risk-conferring genetic variation. This study was designed..

LIFESTYLE MODIFIERS OF RISK OF ENDOMETRIAL CANCER FOR WOMEN WITH GERMLINE MUTATIONS IN DNA MISMATCH REPAIR GENES

AK Win, R Chau, SG Dashti, D Ait Ouakrim, D Buchanan, M Clendenning, G Casey, S Gallinger, RW Haile, L Le Marchand, NM Lindor, PA Newcomb, JL Hopper, MA Jenkins

2014-11-01

Should the grading of colorectal adenocarcinoma include microsatellite instability status?

C Rosty, EJ Williamson, M Clendenning, RJ Walters, AK Win, MA Jenkins, JL Hopper, IM Winship, MC Southey, GG Giles, DR English, DD Buchanan

2014-10-01

Adenocarcinomas of the colon and rectum are graded using a 2-tiered system into histologic low-grade and high-grade tumors based o..

Transethnic genome-wide association study of colorectal cancer identifies a new susceptibility locus in VTI1A

Hansong Wang, Terrilea Burnett, Suminori Kono, Christopher Haiman, Motoki Iwasaki, Lynne Wilkens, Lenora Loo, David Van Den Berg, Laurence Kolonel, Brian Henderson, Temitope Keku, Robert Sandler, Lisa Signorello, William Blot, Polly Newcomb, Mala Pande, Christopher Amos, Dee West, Stephane Bezieau, Sonja Berndt

2014-10-01

<jats:title>Abstract</jats:title> <jats:p>To identify genetic variants that contribute to colorectal cancer (CRC) s..

Validation of the current Lynch Syndrome predictive models in Chinese populations

C Gan, M Jenkins, F Macrae

2014-10-01

Fertility and apparent genetic anticipation in Lynch syndrome

D Stupart, AK Win, M Jenkins, IM Winship, P Goldberg, R Ramesar

2014-09-01

Genetic anticipation is the phenomenon in which age of onset of an inherited disorder decreases in successive generations. Inconsi..

Gene-environment interaction involving recently identified colorectal cancer susceptibility loci

ED Kantor, CM Hutter, J Minnier, SI Berndt, H Brenner, BJ Caan, PT Campbell, CS Carlson, G Casey, AT Chan, J Chang-Claude, SJ Chanock, M Cotterchio, M Du, D Duggan, CS Fuchs, EL Giovannucci, J Gong, TA Harrison, RB Hayes

2014-09-01

Background: Genome-wide association studies have identified several single nucleotide polymorphisms (SNPs) that are associated wit..

Trans-ethnic genome-wide association study of colorectal cancer identifies a new susceptibility locus in VTI1A

H Wang, T Burnett, S Kono, CA Haiman, M Iwasaki, LR Wilkens, LWM Loo, D Van Den Berg, LN Kolonel, BE Henderson, TO Keku, RS Sandler, LB Signorello, WJ Blot, PA Newcomb, M Pande, CI Amos, DW West, S Bézieau, SI Berndt

2014-08-08

The genetic basis of sporadic colorectal cancer (CRC) is not well explained by known risk polymorphisms. Here we perform a meta-an..

Re: Microsatellite instability and BRAF mutation testing in colorectal cancer prognostication

C Rosty, EJ Williamson, M Clendenning, RJ Walters, MD Walsh, AK Win, MA Jenkins, JL Hopper, I Winship, MC Southey, GG Giles, DR English, DD Buchanan

2014-08-01

Characterisation of Familial Colorectal Cancer Type X, Lynch syndrome, and non-familial colorectal cancer

S Shiovitz, WK Copeland, MN Passarelli, AN Burnett-Hartman, WM Grady, JD Potter, S Gallinger, DD Buchanan, C Rosty, AK Win, M Jenkins, SN Thibodeau, R Haile, JA Baron, LL Marchand, PA Newcomb, NM Lindor

2014-07-29

Background: Familial Colorectal Cancer Type X (FCCTX) is defined as individuals with colorectal cancer (CRC) who families meet Ams..

Pleiotropic effects of genetic risk variants for other cancers on colorectal cancer risk: PAGE, GECCO and CCFR consortia

I Cheng, JM Kocarnik, L Dumitrescu, NM Lindor, J Chang-Claude, CL Avery, CP Caberto, SA Love, ML Slattery, AT Chan, JA Baron, LA Hindorff, SL Park, FR Schumacher, M Hoffmeister, P Kraft, AM Butler, DJ Duggan, L Hou, CS Carlson

2014-05-01

Objective: Genome-wide association studies have identified a large number of single nucleotide polymorphisms (SNPs) associated wit..

Cost-effectiveness of family history-based colorectal cancer screening in Australia

DA Ouakrim, A Boussioutas, T Lockett, JL Hopper, MA Jenkins

2014-04-16

Background: With 14.234 diagnoses and over 4047 deaths reported in 2007, colorectal cancer (CRC) is the second most common cancer ..

Perceived versus predicted risks of colorectal cancer and self-reported colonoscopies by members of mismatch repair gene mutation-carrying families who have declined genetic testing

L Flander, A Speirs-Bridge, A Rutstein, H Niven, AK Win, D Ait Ouakrim, JL Hopper, F Macrae, L Keogh, C Gaff, M Jenkins

2014-02-01

People carrying germline mutations in mismatch repair genes are at high risk of colorectal cancer (CRC), yet about half of people ..

Predictive genetic testing of a bone marrow recipient-ethical issues involving unexpected results, gender issues, test accuracy, and implications for the donor

A Sexton, L Rawlings, M Jenkins, I Winship

2014-02-01

We present a case where an apparently straightforward Lynch syndrome predictive genetic test of DNA from a blood sample from a wom..

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

BA Thompson, AB Spurdle, JP Plazzer, MS Greenblatt, K Akagi, F Al-Mulla, B Bapat, I Bernstein, G Capellá, JT Den Dunnen, D Du Sart, A Fabre, MP Farrell, SM Farrington, IM Frayling, T Frebourg, DE Goldgar, CD Heinen, E Holinski-Feder, M Kohonen-Corish

2014-01-01

The clinical classification of hereditary sequence variants identified in disease-related genes directly affects clinical manageme..

Family history of colorectal cancer is not associated with colorectal cancer survival regardless of microsatellite instability status

AI Phipps, DJ Ahnen, PT Campbell, AK Win, MA Jenkins, NM Lindor, R Gryfe, JD Potter, PA Newcomb

2014-01-01

Background: Individuals with a family history of colorectal cancer in first-degree relatives have an elevated risk of developing c..

Genetic variation in UGT genes modify the associations of NSAIDs with risk of colorectal cancer: Colon cancer family registry

D Scherer, LM Koepl, EM Poole, Y Balavarca, L Xiao, JA Baron, L Hsu, AE Coghill, PT Campbell, SE Kleinstein, JC Figueiredo, JW Lampe, K Buck, JD Potter, RJ Kulmacz, MA Jenkins, JL Hopper, AK Win, PA Newcomb, CM Ulrich

2014-01-01

The use of non-steroidal anti-inflammatory drugs (NSAIDs) is associated with reduced risk of colorectal neoplasia. Previous studie..

Identification of susceptibility loci for colorectal cancer in a genome-wide meta-analysis

N Whiffin, FJ Hosking, SM Farrington, C Palles, SE Dobbins, L Zgaga, A Lloyd, B Kinnersley, M Gorman, A Tenesa, P Broderick, Y Wang, E Barclay, C Hayward, L Martin, DD Buchanan, AK Win, J Hopper, M Jenkins, NM Lindor

2014-01-01

To identify common variants influencing colorectal cancer (CRC) risk, we performed a meta-analysis of five genome-wide association..

Molecular Characterization and Cancer Risk Associated with BRCA1 and BRCA2 Splice Site Variants Identified in Multiple-Case Breast Cancer Families

AA Tesoriero, EM Wong, MA Jenkins, JL Hopper, MA Brown, G Chenevix-Trench, AB Spurdle, MC Southey

2014-01-01

Risk of colorectal cancer for carriers of mutations in MUTYH, with and without a family history of cancer

AK Win, JG Dowty, SP Cleary, H Kim, DD Buchanan, JP Young, M Clendenning, C Rosty, RJ Macinnis, GG Giles, A Boussioutas, FA Macrae, S Parry, J Goldblatt, JA Baron, T Burnett, L Le Marchand, PA Newcomb, RW Haile, JL Hopper

2014-01-01

We studied 2332 individuals with monoallelic mutations in MUTYH among 9504 relatives of 264 colorectal cancer (CRC) cases with a M..

Risk of prostate cancer in lynch syndrome: A systematic review and meta-Analysis

S Ryan, MA Jenkins, AK Win

2014-01-01

It has been controversial that men carrying a DNA mismatch repair (MMR) gene mutation (Lynch syndrome) are at heightened risk of p..

Risk profiling: Familial colorectal cancer

AK Win, DA Ouakrim, MA Jenkins

2014-01-01

Family history of colorectal cancer is a well-established and consistently strong risk factor for this disease. However, simply co..

The association of telomere length with colorectal cancer differs by the age of cancer onset

LA Boardman, K Litzelman, S Seo, RA Johnson, RJ Vanderboom, GW Kimmel, JM Cunningham, RE Gangnon, CD Engelman, DL Riegert-Johnson, J Potter, R Haile, D Buchanan, MA Jenkins, DN Rider, SN Thibodeau, GM Petersen, HG Skinner

2014-01-01

OBJECTIVES: Telomeres are nucleoprotein structures that cap the end of chromosomes and shorten with sequential cell divisions in n..

Response

AK Win, MA Jenkins

2013-12-04

Deciphering the genetic architecture of low-penetrance susceptibility to colorectal cancer

N Whiffin, SE Dobbins, FJ Hosking, C Palles, A Tenesa, Y Wang, SM Farrington, AM Jones, P Broderick, H Campbell, PA Newcomb, G Casey, DV Conti, F Schumacher, S Gallinger, NM Lindor, J Hopper, M Jenkins, MG Dunlop, IP Tomlinson

2013-12-01

Recent genome-wide association studies (GWASs) have identified common variants at 16 autosomal regions influencing the risk of dev..

Telomere length varies by DNA extraction method: Implications for epidemiologic research

JM Cunningham, RA Johnson, K Litzelman, HG Skinner, S Seo, CD Engelman, RJ Vanderboom, GW Kimmel, RE Gangnon, DL Riegert-Johnson, JA Baron, JD Potter, R Haile, DD Buchanan, MA Jenkins, DN Rider, SN Thibodeau, GM Petersen, LA Boardman

2013-11-01

Background: Both shorter and longer telomeres in peripheral blood leukocyte (PBL) DNA have been associated with cancer risk. Howev..

Is the reported modifying effect of 8q23.3 and 11q23.1 on colorectal cancer risk for MLH1 mutation carriers valid?

AK Win, MA Jenkins

2013-10-01

Detection of large scale 3′ deletions in the PMS2 gene amongst Colon-CFR participants: Have we been missing anything?

M Clendenning, MD Walsh, JB Gelpi, SN Thibodeau, N Lindor, JD Potter, P Newcomb, L Lemarchand, R Haile, S Gallinger, JL Hopper, MA Jenkins, C Rosty, JP Young, DD Buchanan

2013-09-01

Current screening practices have been able to identify PMS2 mutations in 78 % of cases of colorectal cancer from the Colorectal Ca..

Screening participation for people at increased risk of colorectal cancer due to family history: A systematic review and meta-analysis

D Ait Ouakrim, T Lockett, A Boussioutas, JL Hopper, MA Jenkins

2013-09-01

We conducted a systematic review and a meta-analysis of observational studies to identify and summarise the level of colorectal ca..

Trends in colorectal cancer mortality and screening activities in European countries

P Autier, D Ait Ouakrim, M Malvezzi, H Bleiberg, M Jenkins, M Boniol, E Negri

2013-09-01

Criteria and prediction models for mismatch repair gene mutations: A review

AK Win, RJ MacInnis, JG Dowty, MA Jenkins

2013-08-28

One of the strongest predictors of colorectal cancer risk is carrying a germline mutation in a DNA mismatch repair (MMR) gene. Onc..

A new regulatory variant in the interleukin-6 receptor gene associates with asthma risk

JA Revez, L Bain, B Chapman, JE Powell, R Jansen, DL Duffy, JY Tung, AAGC Collaborators, MC Matheson, GB Marks, J Hui, P Le Souëf, P Danoy, S Baltic, DR Nyholt, M Jenkins, C Hayden, J Beilby, F Cheah, PA Madden

2013-08-16

The main genetic determinant of soluble interleukin 6 receptor (sIL-6R) levels is the missense variant rs2228145 that maps to the ..

Colon and rectal cancer survival by tumor location and microsatellite instability: The colon cancer family registry

AI Phipps, NM Lindor, MA Jenkins, JA Baron, AK Win, S Gallinger, R Gryfe, PA Newcomb

2013-08-01

Background: Cancers in the proximal colon, distal colon, and rectum are frequently studied together; however, there are biological..

Germline HOXB13 p.Gly84Glu mutation and risk of colorectal cancer

MR Akbari, LN Anderson, DD Buchanan, M Clendenning, MA Jenkins, AK Win, JL Hopper, GG Giles, R Nam, S Narod, S Gallinger, SP Cleary

2013-08-01

Introduction: The HOXB13 pGly84Glu mutation has recently been associated with an increased risk of prostate cancer but the associa..

Identification of novel variants in colorectal cancer families by high-throughput exome sequencing

MS DeRycke, SR Gunawardena, S Middha, YW Asmann, DJ Schaid, SK McDonnell, SM Riska, BW Eckloff, JM Cunningham, BL Fridley, DJ Serie, WR Bamlet, MS Cicek, MA Jenkins, DJ Duggan, D Buchanan, M Clendenning, RW Haile, MO Woods, SN Gallinger

2013-07-01

Background: Colorectal cancer (CRC) in densely affected families without Lynch Syndrome may be due to mutations in undiscovered ge..

Germline Mutations in the Polyposis-Associated Genes BMPR1A, SMAD4, PTEN, MUTYH and GREM1 Are Not Common in Individuals with Serrated Polyposis Syndrome

M Clendenning, JP Young, MD Walsh, S Woodall, J Arnold, M Jenkins, AK Win, JL Hopper, K Sweet, S Gallinger, C Rosty, S Parry, DD Buchanan

2013-06-21

Background:Recent reports have observed that individuals with serrated polyps, some of whom meet the clinical diagnostic criteria ..

BRAFV600E immunohistochemistry facilitates universal screening of colorectal cancers for lynch syndrome

CW Toon, MD Walsh, A Chou, D Capper, A Clarkson, L Sioson, S Clarke, S Mead, RJ Walters, M Clendenning, C Rosty, JP Young, AK Win, JL Hopper, A Crook, A von Deimling, MA Jenkins, DD Buchanan, AJ Gill

2013-06-20

BRAFV600E mutation in microsatellite-unstable (MSI) colorectal carcinomas (CRCs) virtually excludes Lynch syndrome (LS). In micros..

PIK3CA Activating Mutation in Colorectal Carcinoma: Associations with Molecular Features and Survival

C Rosty, JP Young, MD Walsh, M Clendenning, K Sanderson, RJ Walters, S Parry, MA Jenkins, AK Win, MC Southey, JL Hopper, GG Giles, EJ Williamson, DR English, DD Buchanan

2013-06-13

Mutations in PIK3CA are present in 10 to 15% of colorectal carcinomas. We aimed to examine how PIK3CA mutations relate to other mo..

Absence of PMS2 mutations in colon-CFR participants whose colorectal cancers demonstrate unexplained loss of MLH1 expression

M Clendenning, F Macrae, M Walsh, RJ Walters, SN Thibodeau, SR Gunawardena, JD Potter, RW Haile, S Gallinger, JL Hopper, MA Jenkins, C Rosty, JP Young, DD Buchanan

2013-06-01

Risk of metachronous colon cancer following surgery for rectal cancer in mismatch repair gene mutation carriers

AK Win, S Parry, B Parry, MF Kalady, FA Macrae, DJ Ahnen, GP Young, L Lipton, I Winship, A Boussioutas, JP Young, DD Buchanan, J Arnold, L Le Marchand, PA Newcomb, RW Haile, NM Lindor, S Gallinger, JL Hopper, MA Jenkins

2013-06-01

Background: Despite regular surveillance colonoscopy, the metachronous colorectal cancer risk for mismatch repair (MMR) gene mutat..

Are the common genetic variants associated with colorectal cancer risk for DNA mismatch repair gene mutation carriers?

AK Win, JL Hopper, DD Buchanan, JP Young, A Tenesa, JG Dowty, GG Giles, J Goldblatt, I Winship, A Boussioutas, GP Young, S Parry, JA Baron, D Duggan, S Gallinger, PA Newcomb, RW Haile, LL Marchand, NM Lindor, MA Jenkins

2013-05-01

Background: Genome-wide association studies have identified at least 15 independent common genetic variants associated with colore..

Family history of colorectal cancer in BRAF p.V600emutated colorectal cancer cases

DD Buchanan, AK Win, MD Walsh, RJ Walters, M Clendenning, B Nagler, SA Pearson, FA Macrae, S Parry, J Arnold, I Winship, GG Giles, NM Lindor, JD Potter, JL Hopper, C Rosty, JP Young, MA Jenkins

2013-05-01

Background: Previous reports suggest that relatives of colorectal cancer (CRC)-affected probands carrying the BRAF p.V600E mutatio..

Additive and multiplicative gene-environment interactions for colorectal cancer risk.

Mengmenq Du, Sonja I Berndt, Hermann Brenner, Bette J Caan, Peter T Campbell, Graham Casey, Andrew Chan, Jenny Chang-Claude, Stephen J Chanock, Nilanjan Chatterjee, David V Conti, David Duggan, Jane C Figueiredo, Steven Gallinger, Jian Gong, Robert W Haile, Tabitha A Harrison, Richard B Hayes, Michael Hoffmeister, John L Hopper

2013-04-15

<jats:title>Abstract</jats:title> <jats:p>Background: Genetic and environmental factors influence colorectal cancer..

Hazard ratio for colorectal cancer risk in Lynch syndrome is inversely associated with age.

Mark A Jenkins, Aung Ko Win, James G Dowty, John D Mathews, John L Hopper

2013-04-15

<jats:title>Abstract</jats:title> <jats:p>Introduction: Carriers of germline mutations in mismatch repair genes (ML..

Predicting risk of colorectal cancer depending on tumor pathology features for first-degree relatives of persons with colorectal cancer.

Aung K Win, Daniel D Buchanan, Christophe Rosty, Graham G Giles, John L Hopper, Mark A Jenkins

2013-04-15

Genetic Variations in SMAD7 Are Associated with Colorectal Cancer Risk in the Colon Cancer Family Registry

X Jiang, JE Castelao, D Vandenberg, A Carracedo, CM Redondo, DV Conti, JP Paredes Cotoré, JD Potter, PA Newcomb, MN Passarelli, MA Jenkins, JL Hopper, S Gallinger, L Le Marchand, ME Martínez, DJ Ahnen, JA Baron, NM Lindor, RW Haile, M Gago-Dominguez

2013-04-03

Background: Recent genome-wide studies identified a risk locus for colorectal cancer at 18q21, which maps to the SMAD7 gene. Our o..

Risk of breast cancer in Lynch syndrome: A systematic review

AK Win, NM Lindor, MA Jenkins

2013-03-19

Introduction: Lynch syndrome is an autosomal dominantly inherited disorder of cancer susceptibility caused by germline mutations i..

Multiplicity and molecular heterogeneity of colorectal carcinomas in individuals with serrated polyposis

C Rosty, MD Walsh, RJ Walters, M Clendenning, SA Pearson, MA Jenkins, AK Win, JL Hopper, K Sweet, WL Frankel, M Aronson, S Gallinger, J Goldblatt, K Tucker, S Greening, MR Gattas, S Woodall, J Arnold, NI Walker, S Parry

2013-03-01

Serrated polyposis (SP) is a clinically defined syndrome characterized by the occurrence of multiple serrated polyps in the large ..

Risks of colorectal and other cancers after endometrial cancer for women with lynch syndrome

AK Win, NM Lindor, I Winship, KM Tucker, DD Buchanan, JP Young, C Rosty, B Leggett, GG Giles, J Goldblatt, FA MacRae, S Parry, MF Kalady, JA Baron, DJ Ahnen, LL Marchand, S Gallinger, RW Haile, PA Newcomb, JL Hopper

2013-02-20

Background Lynch syndrome is an autosomal dominantly inherited disorder caused by germline mutations in DNA mismatch repair (MMR) ..

Population-Based Estimate of Prostate Cancer Risk for Carriers of the HOXB13 Missense Mutation G84E

RJ MacInnis, G Severi, L Baglietto, JG Dowty, MA Jenkins, MC Southey, JL Hopper, GG Giles

2013-02-15

The HOXB13 missense mutation G84E (rs138213197) is associated with increased risk of prostate cancer, but the current estimate of ..

PIK3CA Activating Mutation in Colorectal Carcinoma: A Stratified Analysis in a Prospective Cohort

C Rosty, JP Young, MD Walsh, M Clendenning, MA Jenkins, AK Win, MC Southey, S Parry, JL Hopper, GG Giles, E Williamson, DR English, DD Buchanan

2013-02-01

Prostate Carcinomas Arising in Lynch Syndrome Patients Frequently Show Concordant Mismatch Repair Deficiency

C Rosty, MD Walsh, M Clendenning, JP Young, N Lindor, JL Hopper, MA Jenkins, DD Buchanan

2013-02-01

Serrated Pathway Colorectal Carcinoma without Microsatellite Instability Demonstrates Aggressive Features and Is Associated with Poor Overall Survival

C Rosty, JP Young, MD Walsh, R Walters, MA Jenkins, AK Win, MC Southey, S Parry, JL Hopper, GG Giles, DR English, DD Buchanan

2013-02-01

Colorectal carcinomas with KRAS mutation are associated with distinctive morphological and molecular features

C Rosty, JP Young, MD Walsh, M Clendenning, RJ Walters, S Pearson, E Pavluk, B Nagler, D Pakenas, JR Jass, MA Jenkins, AK Win, MC Southey, S Parry, JL Hopper, GG Giles, E Williamson, DR English, DD Buchanan

2013-01-01

KRAS-mutated carcinomas comprise 35-40% of all colorectal carcinomas but little is known about their characteristics. The aim of t..

Expression of MUC2, MUC5AC, MUC5B, and MUC6 mucins in colorectal cancers and their association with the CpG island methylator phenotype

MD Walsh, M Clendenning, E Williamson, SA Pearson, RJ Walters, B Nagler, D Packenas, AK Win, JL Hopper, MA Jenkins, AM Haydon, C Rosty, DR English, GG Giles, MA McGuckin, JP Young, DD Buchanan

2013-01-01

Mucinous differentiation is associated with both CpG island methylator phenotype and microsatellite instability in colorectal canc..

Identification of genetic susceptibility loci for colorectal tumors in a genome-wide meta-analysis

U Peters, S Jiao, FR Schumacher, CM Hutter, AK Aragaki, JA Baron, SI Berndt, S Bézieau, H Brenner, K Butterbach, BJ Caan, PT Campbell, CS Carlson, G Casey, AT Chan, J Chang-Claude, SJ Chanock, LS Chen, GA Coetzee, SG Coetzee

2013-01-01

Background & Aims: Heritable factors contribute to the development of colorectal cancer. Identifying the genetic loci associated w..

Lynch syndrome-associated breast cancers do not overexpress chromosome 11-encoded mucins

MD Walsh, MC Cummings, SA Pearson, M Clendenning, RJ Walters, B Nagler, JL Hopper, MA Jenkins, GK Suthers, J Goldblatt, K Tucker, MR Gattas, JL Arnold, S Parry, FA Macrae, MA Mcguckin, JP Young, DD Buchanan

2013-01-01

Mismatch repair-deficient breast cancers may be identified in Lynch syndrome mutation carriers, and have clinicopathological featu..

Genome-Wide Search for Gene-Gene Interactions in Colorectal Cancer

S Jiao, L Hsu, S Berndt, S Bézieau, H Brenner, D Buchanan, BJ Caan, PT Campbell, CS Carlson, G Casey, AT Chan, J Chang-Claude, S Chanock, DV Conti, KR Curtis, D Duggan, S Gallinger, SB Gruber, TA Harrison, RB Hayes

2012-12-29

Genome-wide association studies (GWAS) have successfully identified a number of single-nucleotide polymorphisms (SNPs) associated ..

Identification of Risk Genes through Whole Exome Sequencing in the Colon Cancer Family Registry

Melissa S DeRycke, Shanaka R Gunawardena, Shannon K McDonnell, Shaun M Riska, Yan W Asmann, Sumit Middha, Daniel J Schaid, Bruce W Eckloff, Stephen N Thibodeau, Noralane M Lindor, John L Hopper, Mark A Jenkins, Daniel D Buchanen, Michael Woods, Robert W Haile, Graham Casey, John A Baron, Steve Gallinger, Ellen L Goode

2012-11-01

Screening practices of Australian men and women categorized as "at or slightly above average risk" of colorectal cancer

D Ait Ouakrim, T Lockett, A Boussioutas, L Keogh, LB Flander, I Winship, GG Giles, JL Hopper, MA Jenkins

2012-11-01

Purpose Australia has one of the highest incidences of colorectal cancer (CRC) in the world. In 2006, the federal government intro..

Identification of Lynch syndrome among patients with colorectal cancer

L Moreira, F Balaguer, N Lindor, A De La Chapelle, H Hampel, LA Aaltonen, JL Hopper, L Le Marchand, S Gallinger, PA Newcomb, R Haile, SN Thibodeau, S Gunawardena, MA Jenkins, DD Buchanan, JD Potter, JA Baron, DJ Ahnen, V Moreno, M Andreu

2012-10-17

Context: Lynch syndrome is the most common form of hereditary colorectal cancer (CRC) and is caused by germline mutations in DNA m..

Risks of primary extracolonic cancers following colorectal cancer in lynch syndrome

AK Win, NM Lindor, JP Young, FA MacRae, GP Young, E Williamson, S Parry, J Goldblatt, L Lipton, I Winship, B Leggett, KM Tucker, GG Giles, DD Buchanan, M Clendenning, C Rosty, J Arnold, A Joan Levine, RW Haile, S Gallinger

2012-09-19

Background Lynch syndrome is a highly penetrant cancer predisposition syndrome caused by germline mutations in DNA mismatch repair..

Body size and risk for colorectal cancers showing BRAF mutations or microsatellite instability: A pooled analysis

LAE Hughes, EJ Williamson, M Van Engeland, MA Jenkins, GG Giles, JL Hopper, MC Southey, JP Young, DD Buchanan, MD Walsh, PA Van den Brandt, R Alexandra Goldbohm, MP Weijenberg, DR English

2012-08-01

Background How body size influences risk of molecular subtypes of colorectal cancer (CRC) is unclear. We investigated whether meas..

Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk

MG Dunlop, SE Dobbins, SM Farrington, AM Jones, C Palles, N Whiffin, A Tenesa, S Spain, P Broderick, LY Ooi, E Domingo, C Smillie, M Henrion, M Frampton, L Martin, G Grimes, M Gorman, C Semple, YP Ma, E Barclay

2012-07-01

We performed a meta-analysis of five genome-wide association studies to identify common variants influencing colorectal cancer (CR..

Performance of PREMM 1,2,6, MMRpredict, and MMRpro in detecting Lynch syndrome among endometrial cancer cases

RC Mercado, H Hampel, F Kastrinos, E Steyerberg, J Balmana, E Stoffel, DE Cohn, FJ Backes, JL Hopper, MA Jenkins, NM Lindor, G Casey, R Haile, S Madhavan, A De La Chapelle, S Syngal

2012-01-01

Purpose: Lynch syndrome accounts for 2-5% of endometrial cancer cases. Lynch syndrome prediction models have not been evaluated am..